Fatal Familial Insomnia

a rare inherited prion disease characterized by a gradual loss of the ability to sleep until the patient dies of exhaustion.

Fatal familial insomnia only affects about 50 families worldwide.

For the world population, there is a one in

30 million chance of getting fatal

familial insomnia.

For members of the few affected families, chances of getting the disease are one in two.

Etiology

Fatal familial insomnia is the result of a mutated gene on chromosome 20. The gene on its own does not cause the disease, it depends on the configuration of another gene

further along the chromosome. This second gene, however, is not mutated. The inheritance pattern is autosomal dominant.

Prion: an infectious protein particle similar to a virus but lacking nucleic acid.

The mutated gene causes prion proteins to fold improperly. Once one is misfolded, any others it binds to also become folded improperly. Cells with badly foldly proteins cannot survive and die, leaving holes in sections of the brain. Other prion diseases have the same effect. The difference between the diseases is what section of the brain it affects.

Symptoms

Onset of FFI does not occur until middle age.

Outside

Small pupils

Profusely sweating

Twitching

Loss of balance and ability to walk

Sleep becomes progressively more difficult until it never comes at all. Eventually the sufferer collapses into a coma, ultimately resulting in their death.

Inside

Holes in the thalamus prevent the body from being able to turn off autonomic impulses. The body is running at top speed 24/7.

Although patients may lose the ability to speak, most retain their intelligence until they die, so they know about and understand the terrifying things happening to them, trapped inside their body.

Heart rate soars

Blood pressure skyrockets

Treatment

So far, there is no treatment.

Prions, while they act like viruses or bacteria, cannot be disinfected the same way. They are unaffected by heat, radiation, electricity, and even snake venom. Even though they are created by a gene mutation, gene therapy has been so far unsuccessful.

PROGNOSIS

Those with FFI are guaranteed to die in as short as months. Some are able to last just over two years.

Research

FFI was discovered less than 30 years ago, so much of the research done on the disorder is very recent, and still ongoing.

Dr. Ignazio Roiter

• Roiter married into one of the few families affected by FFI.
• He was the first to look into the disorder, and was the one who made the family realize they had to stop hiding, and use publicity to get research done to cure their disease.
• Co-discoverer of FFI.
• He arranged for pedigrees to be traced of the family to see who had possibly died of FFI.
• He also arranged for the brain of one of his wife's relatives to be studied when he died of FFI.
• Roiter is credited with the discovery of FFI in 1986

Dr. Elio Lugaresi

• Co-discoverer of FFI
• Dr. Lugaresi discovered that the origin of the disorder was the section of the brain called the thalamus.
• Was a sleep specialist that wanted to have Roiter's wife's uncle's brain examined when he died.

Dr. Carleton Gajdusek

• Gajdusek was the leader of the 'slow virus' research from the 70s and 80s.
• He researched kuru, CJD, vCJD, and GSS as well as FFI.

Dr. Stanley Prusiner

• Discovered and named prions.
• Discovered that prions are generated by the host.
• Theory of Conformational Influence
• Nobel Prize for Physiology or Medicine in 1997 for his work on prions.

Dr. Pierluigi Gambetti

• Co-discoverer of FFI.
• Studied the brain of one of Roiter's wife's relatives, and reported back to Lugaresi.

Future Research

Researchers now are still trying to figure out what the prion's weakness is to find a cure. Research on FFI and other prion diseases will hopefully lead to breakthroughs in diseases like Alzheimer's and Huntington's as well, even though they are not prion diseases.

Interesting Facts

The scientists who discovered FFI initially called it familial hyper-somnolence, then lethal familial insomnia before they settled on fatal familial insomnia.

The actual cause of death for FFI victims is respiratory failure or infection.

When sufferers of FFI go to the doctor for help, most presume that the patient is an alcoholic until they can prove otherwise.

Fatal Familial Insomnia